ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000116.4(TAZ):c.542-3C>G rs781795144
NM_001001563.4(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807
NM_001001563.4(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112
NM_032861.3(SERAC1):c.91+6T>C rs1554265452

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